FAM110A[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 150565	GRCh38/hg38 20p13(chr20:80093-1246766)x1	ANGPT4, C20orf202 +76 more	Copy number loss	See cases	GPathogenic
Select item 154852	GRCh38/hg38 20p13(chr20:80106-1246891)x1	ANGPT4, C20orf202 +76 more	Copy number loss	See cases	GLikely pathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 155633	GRCh38/hg38 20p13(chr20:80927-1806080)x1	ANGPT4, C20orf202 +103 more	Copy number loss	See cases	GLikely pathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 161074	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146529	GRCh38/hg38 20p13(chr20:89939-1494113)x1	DEFB129, DEFB132 +96 more	Copy number loss	See cases	GPathogenic
Select item 146515	GRCh38/hg38 20p13(chr20:89939-1246891)x3	ANGPT4, C20orf202 +76 more	Copy number gain	See cases	GUncertain significance
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 58943	GRCh38/hg38 20p13(chr20:89939-1770567)x1	ANGPT4, C20orf202 +102 more	Copy number loss	See cases	GPathogenic
Select item 58942	GRCh38/hg38 20p13(chr20:89939-1939218)x1	LOC129391148, LOC129391149 +110 more	Copy number loss	See cases	GPathogenic
Select item 58941	GRCh38/hg38 20p13(chr20:89939-975656)x1	ANGPT4, C20orf96 +64 more	Copy number loss	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 57307	GRCh38/hg38 20p13(chr20:89939-1028206)x3	ANGPT4, C20orf96 +65 more	Copy number gain	See cases	GPathogenic
Select item 57188	GRCh38/hg38 20p13(chr20:89939-1360110)x1	ANGPT4, C20orf202 +87 more	Copy number loss	See cases	GPathogenic
Select item 35265	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 58945	GRCh38/hg38 20p13(chr20:121781-2290194)x1	ANGPT4, C20orf202 +120 more	Copy number loss	See cases	GPathogenic
Select item 152298	GRCh38/hg38 20p13(chr20:209424-1852477)x3	ANGPT4, C20orf202 +100 more	Copy number gain	See cases	GUncertain significance
Select item 151036	GRCh38/hg38 20p13(chr20:364204-879317)x3	ANGPT4, CSNK2A1 +34 more	Copy number gain	See cases	GUncertain significance
Select item 58940	GRCh38/hg38 20p13(chr20:828964-1241192)x3	ANGPT4, C20orf202 +21 more	Copy number gain	See cases	GUncertain significance
Select item 2324644	NM_001042353.3(FAM110A):c.37G>A (p.Ala13Thr)	FAM110A (A13T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2384269	NM_001042353.3(FAM110A):c.43G>A (p.Ala15Thr)	FAM110A (A15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280487	NM_001042353.3(FAM110A):c.145G>T (p.Asp49Tyr)	FAM110A (D49Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091629	NM_001042353.3(FAM110A):c.160G>A (p.Val54Ile)	FAM110A (V54I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091630	NM_001042353.3(FAM110A):c.181A>G (p.Asn61Asp)	FAM110A (N61D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091631	NM_001042353.3(FAM110A):c.334G>C (p.Asp112His)	FAM110A (D112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524075	NM_001042353.3(FAM110A):c.352G>A (p.Val118Met)	FAM110A (V118M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091632	NM_001042353.3(FAM110A):c.380C>T (p.Pro127Leu)	FAM110A (P127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329188	NM_001042353.3(FAM110A):c.386G>C (p.Arg129Pro)	FAM110A (R129P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359981	NM_001042353.3(FAM110A):c.389C>T (p.Ala130Val)	FAM110A (A130V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710152	NM_001042353.3(FAM110A):c.397G>C (p.Ala133Pro)	FAM110A (A133P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2545670	NM_001042353.3(FAM110A):c.412C>G (p.Pro138Ala)	FAM110A (P138A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091633	NM_001042353.3(FAM110A):c.431C>A (p.Pro144Gln)	FAM110A (P144Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091634	NM_001042353.3(FAM110A):c.451G>A (p.Val151Ile)	FAM110A (V151I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091635	NM_001042353.3(FAM110A):c.466G>A (p.Val156Ile)	FAM110A (V156I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277078	NM_001042353.3(FAM110A):c.523G>A (p.Ala175Thr)	FAM110A (A175T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301727	NM_001042353.3(FAM110A):c.579G>T (p.Glu193Asp)	FAM110A (E193D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489428	NM_001042353.3(FAM110A):c.590G>A (p.Arg197Lys)	FAM110A (R197K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270568	NM_001042353.3(FAM110A):c.607G>C (p.Glu203Gln)	FAM110A (E203Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406153	NM_001042353.3(FAM110A):c.668A>G (p.His223Arg)	FAM110A (H223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343321	NM_001042353.3(FAM110A):c.743G>T (p.Cys248Phe)	FAM110A (C248F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294185	NM_001042353.3(FAM110A):c.776G>T (p.Arg259Leu)	FAM110A (R259L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568412	NM_001042353.3(FAM110A):c.797A>G (p.Tyr266Cys)	FAM110A (Y266C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091636	NM_001042353.3(FAM110A):c.802G>A (p.Val268Met)	FAM110A (V268M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +114 more	Copy number gain	not provided	GPathogenic
Select item 2684900	GRCh37/hg19 20p13(chr20:438458-1083208)x3	ANGPT4, CSNK2A1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2684898	GRCh37/hg19 20p13(chr20:61569-1794919)x3	ANGPT4, C20orf202 +31 more	Copy number gain	not provided	GUncertain significance
Select item 2671604	Single allele	ANGPT4, C20orf96 +19 more	Deletion	not provided	GPathogenic
Select item 2671592	Single allele	C20orf202, ZCCHC3 +35 more	Deletion	not provided	GPathogenic
Select item 1526676	GRCh37/hg19 20p13(chr20:61568-1823540)	ANGPT4, C20orf202 +31 more	Copy number loss	not specified	GPathogenic
Select item 1341979	GRCh37/hg19 20p13(chr20:489033-898472)x3	ANGPT4, CSNK2A1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1047898	GRCh37/hg19 20p13(chr20:67778-974841)	ANGPT4, C20orf96 +19 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 816101	GRCh37/hg19 20p13(chr20:61568-1305971)x1	ANGPT4, C20orf202 +25 more	Copy number loss	not provided	GPathogenic
Select item 816099	GRCh37/hg19 20p13(chr20:61568-2269777)x1	DEFB132, FAM110A +34 more	Copy number loss	not provided	GPathogenic
Select item 688959	GRCh37/hg19 20p13(chr20:728577-1237670)x4	ANGPT4, C20orf202 +6 more	Copy number gain	not provided	GUncertain significance
Select item 687433	GRCh37/hg19 20p13(chr20:288904-874280)x3	ANGPT4, CSNK2A1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 564643	GRCh37/hg19 20p13(chr20:61568-2010334)x1	ANGPT4, C20orf202 +33 more	Copy number loss	not provided	GLikely pathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 443574	GRCh37/hg19 20p13(chr20:381794-1268103)x3	ANGPT4, C20orf202 +13 more	Copy number gain	See cases	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443248	GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3	ADAM33, ADISSP +80 more	Copy number gain	See cases	GUncertain significance
Select item 442743	GRCh37/hg19 20p13(chr20:61568-2824960)x3	NSFL1C, PCED1A +48 more	Copy number gain	See cases	GUncertain significance
Select item 441596	GRCh37/hg19 20p13(chr20:61568-1651420)x1	ANGPT4, C20orf202 +31 more	Copy number loss	See cases	GLikely pathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 393750	GRCh37/hg19 20p13(chr20:121521-2073612)x1	ANGPT4, C20orf202 +32 more	Copy number loss	See cases	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic
Select item 202236	GRCh37/hg19 20p13(chr20:71023-2129746)x1	NRSN2, SIRPD +34 more	Copy number loss	See cases	GPathogenic

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Items: 80